Linked Data
ClinVar Variation Id:
2142608
ClinVar RCV Id:
RCV003062655
dbSNP Id:
rs374371284
ExAC:
1:2337924 T / C
gnomAD v2:
1-2337924-T-C
gnomAD v3:
1-2406485-T-C
gnomAD v4:
1-2406485-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2406485T>C , CM000663.2:g.2406485T>C | GRCh38 |
| NC_000001.10:g.2337924T>C , CM000663.1:g.2337924T>C | GRCh37 |
| NC_000001.9:g.2327784T>C | NCBI36 |
| NG_008342.1:g.11087A>G | |
| NG_016128.1:g.19711T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.971A>G | ENSP00000288774.3:p.Lys324Arg | |
| ENST00000447513.7:c.911A>G MANE Select | ENSP00000407922.2:p.Lys304Arg | |
| ENST00000650293.1:c.865A>G | ||
| ENST00000288774.7:c.971A>G | ENSP00000288774.3:p.Lys324Arg | |
| ENST00000447513.6:c.911A>G | ENSP00000407922.2:p.Lys304Arg | |
| ENST00000507596.5:c.911A>G | ENSP00000424291.1:p.Lys304Arg | |
| NM_002617.3:c.911A>G | NP_002608.1:p.Lys304Arg | |
| NM_153818.1:c.971A>G | NP_722540.1:p.Lys324Arg | |
| XM_011541573.1:c.968A>G | XP_011539875.1:p.Lys323Arg | |
| XM_011541574.1:c.536A>G | XP_011539876.1:p.Lys179Arg | |
| XM_011541575.1:c.536A>G | XP_011539877.1:p.Lys179Arg | |
| XR_946666.1:n.1027A>G | ||
| XR_946666.2:n.976A>G | ||
| NM_001374425.1:c.968A>G | NP_001361354.1:p.Lys323Arg | |
| NM_001374426.1:c.536A>G | NP_001361355.1:p.Lys179Arg | |
| NM_001374427.1:c.479A>G | NP_001361356.1:p.Lys160Arg | |
| NM_002617.4:c.911A>G MANE Select | NP_002608.1:p.Lys304Arg | |
| NM_153818.2:c.971A>G | NP_722540.1:p.Lys324Arg | |
| NR_164636.1:n.1026A>G |